| 1 | DBA14, DBA8, RPS7, TSR2
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| Splice-site variant in the RPS7 5'-UTR leads to a decrease in the mRNA level and development of Diamond-Blackfan anemia.
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| Skorodumova LO, Davydenko KA, Filatova AY, Skoblov MY, Kulemin NA, Khadzhieva MB, Zakharova ES, Gordeeva VD, Smetanina NS, Fedyushkina IV, Anastasevich LA, Larin SS.
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| Clin Genet. Jan;103(1):93-96. doi: 10.1111/cge.14221. Epub 2022 Sep 12. 2023
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| 2 | RPS26, TSR2
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| The chaperone Tsr2 regulates Rps26 release and reincorporation from mature ribosomes to enable a reversible, ribosome-mediated response to stress
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| Yang YM, Karbstein K.
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| Sci Adv. Feb 25;8(8):eabl4386. doi: 10.1126/sciadv.abl4386. Epub 2022 Feb 25. 2022
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| 3 | TSR2
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| TSR2 Induces laryngeal cancer cell apoptosis through inhibiting NF-κB signaling pathway
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| He HJ, Bing H, Liu G.
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| Laryngoscope Apr;128(4):E130-E134. doi: 10.1002/lary.27035. Epub 2017 Dec 27. 2018
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| 4 | DBA14, TSR2
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| Molecular basis for disassembly of an importin:ribosomal protein complex by the escortin Tsr2
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| Schütz S, Michel E, Damberger FF, Oplová M, Peńa C, Leitner A, Aebersold R, Allain FH, Panse VG.
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| Nat Commun. Sep 10;9(1):3669. doi: 10.1038/s41467-018-06160-x. 2018
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| 5 | DBA14, DBA15, RPS28, TSR2
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| Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28
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| Gripp KW, Curry C, Olney AH, Sandoval C, Fisher J, Chong JX; UW Center for Mendelian Genomics; Pilchman L, Sahraoui R, Stabley DL, Sol-Church K.
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| Am J Med Genet A. Sep;164A(9):2240-9. doi: 10.1002/ajmg.a.36633. Epub 2014 Jun 18. 2014
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| 6 | TSR2
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| The novel protein TSR2 inhibits the transcriptional activity of nuclear factor-kappaB and induces apoptosis
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| He H, Zhu D, Sun J, Pei R, Jia S.
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| Mol Biol (Mosk). May-Jun;45(3):496-502. 2011
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